Rachel Beddow

<i>PBX1</i> haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Pauline Le Tanno, Julie Breton, Marie Bidart et al. · Journal of Medical Genetics · 2017 · 55 citations

Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour

Rachel Beddow, Melissa Smith, Alexa Kidd et al. · European Journal of Medical Genetics · 2010 · 28 citations

Distal 22Q11.2, Urology, Teratoid/rhabdoid Tumour +3

A Combined Cytogenetic and Molecular Approach to Diagnosis in a Case of Desmoplastic Small Round Cell Tumor with a Complex Translocation (11;22;21)

Paul Roberts, Susan A. Burchill, Rachel Beddow et al. · Cancer Genetics and Cytogenetics · 1999 · 18 citations

Tumoral Pathology, Complex Translocation, Tumor Heterogeneity +9

A new acro-osteolysis syndrome caused by duplications including PTHLH

Mary Jane Gray, Margriet van Kogelenberg, Rachel Beddow et al. · Journal of Human Genetics · 2014 · 15 citations · Full text

Bone Disease, Osteopathy, Osteoarthritis +5

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

Mary R. Sy, Jaynee Chauhan, Katrina Prescott et al. · American Journal of Medical Genetics Part A · 2022 · 11 citations · Full text